Gene

gphna

ID
ZDB-GENE-110127-3
Name
gephyrin a
Symbol
gphna Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Predicted to enable molybdopterin molybdotransferase activity. Acts upstream of or within glycine receptor clustering. Predicted to be active in several cellular components, including dendrite; postsynaptic membrane; and postsynaptic specialization. Is expressed in head; myotome; rhombomere; spinal cord; and spinal cord interneuron. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from Ogino et al., 2011
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gphna Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
molybdenum cofactor deficiency type C Alliance Molybdenum cofactor deficiency C 615501
Associated With gphna Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR008284 Molybdenum cofactor biosynthesis, conserved site
Domain IPR001453 MoaB/Mog domain
Domain IPR005110 MoeA, N-terminal and linker domain
Domain IPR005111 MoeA, C-terminal, domain IV
Family IPR038987 Molybdopterin biosynthesis protein MoeA-like
Homologous_superfamily IPR036135 MoeA, N-terminal and linker domain superfamily
Homologous_superfamily IPR036425 MoaB/Mog-like domain superfamily
Homologous_superfamily IPR036688 MoeA, C-terminal, domain IV superfamily
Domain Details Per Protein
Protein Length MoaB/Mog domain MoaB/Mog-like domain superfamily MoeA, C-terminal, domain IV MoeA, C-terminal, domain IV superfamily MoeA, N-terminal and linker domain MoeA, N-terminal and linker domain superfamily Molybdenum cofactor biosynthesis, conserved site Molybdopterin biosynthesis protein MoeA-like
UniProtKB:A0A2R8QMT4 847
UniProtKB:D3KYK8 774
UniProtKB:D3KYL0 834
UniProtKB:A0A2R8Q4H0 854
UniProtKB:A0A2R8RZ21 803
UniProtKB:D3KYK7 735
UniProtKB:D3KYK9 795
UniProtKB:A0A0R4INA6 868
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-gphn monoclonal IgG1 Mouse
  • IHC
  • WB
BD Biosciences
4
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations